Canonical Allele Identifier: CA2481664959

Gene: CHIT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225705_203225706delinsTC , CM000663.2:g.203225705_203225706delinsTC	GRCh38
NC_000001.10:g.203194833_203194834delinsTC , CM000663.1:g.203194833_203194834delinsTC	GRCh37
NC_000001.9:g.201461456_201461457delinsTC	NCBI36
NG_012867.1:g.9027_9028delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.220_221delinsGA MANE Select	ENSP00000356198.1:p.Glu74=
ENST00000255427.7:c.220_221delinsGA	ENSP00000255427.3:p.Glu74=
ENST00000367229.5:c.220_221delinsGA	ENSP00000356198.1:p.Glu74=
ENST00000484834.5:n.4577_4578delinsGA
ENST00000491855.5:c.220_221delinsGA	ENSP00000423778.1:p.Glu74=
ENST00000503786.1:c.220_221delinsGA	ENSP00000421617.1:p.Glu74=
ENST00000513472.5:n.416_417delinsGA
NM_001256125.1:c.220_221delinsGA	NP_001243054.2:p.Glu74=
NM_001270509.1:c.220_221delinsGA	NP_001257438.1:p.Glu74=
NM_003465.2:c.220_221delinsGA	NP_003456.1:p.Glu74=
NR_045784.1:n.316_317delinsGA
NR_045785.1:n.316_317delinsGA
XM_011509109.1:c.265_266delinsGA	XP_011507411.1:p.Glu89=
XM_011509110.1:c.265_266delinsGA	XP_011507412.1:p.Glu89=
XR_921732.1:n.265_266delinsGA
NM_003465.3:c.220_221delinsGA MANE Select	NP_003456.1:p.Glu74=
NM_001256125.2:c.220_221delinsGA	NP_001243054.2:p.Glu74=
NR_045784.2:n.257_258delinsGA
NR_045785.2:n.257_258delinsGA